Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

M1-Block 1 > Diseases - MBM Exam 1 > Flashcards

Diseases - MBM Exam 1 Flashcards

1
Q

Tay-Sachs

A

Lysosomal Storage disease, lack of lysosomal a-hexosaminidase, GM2 ganglioside builds up

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Neumann Pick Type A, B

A

Lack of sphingomyelinase, accumulates in CNS Lack of sphingomyelinase, accumulates in CNS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Gaucher Disease

A

Lysosomal Storage disease, lack of the lysosomal enzyme glucocerebrosidase Symptoms: hepatosplenomegaly, bone disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Cushing’s Syndrome

A

Fatty acid disease, Cortisol chronically causes accelerated lipolysis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Malate Dehydrogenase Deficiency

A

Fatty acid disease, lack of malate dehydrogenase causes early onset encephalopathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Congenital General Lipodystrophy Type I

A

CGL1, Fatty acid disease, lack of AGPAT2 results in lack of bodyfat

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Fabry’s Disease

A

Fatty acid/Lysosomal storage, lack of a-galactosidase results in accumulation of sphingolipids Symptoms: rashy skin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Zellweger Syndrome

A

Peroxisomal disease, Very long chain fatty acids cannot be imported to peroxisomes, Symptoms: hepatic, cerebral, and renal degeneration

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Respiratory Distress Syndrome

A

RDS, Fatty acid disease, Lung surfactant in neonates is not produced (dipalmitoyl phosphatidylcholine)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Neutral Lipid Storage Disorder with Myopathy

A

NLSDM, Fatty acid disease, Mutations in ATGL

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Emery-Dreifuss syndrome (muscular dystrophy)

A

Laminopathy, lack of necessary lamina protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Hutchinson-Gilford syndrome (progeria)

A

Laminopathy, splicing error in nuclear lamina

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Lynch Syndrome

A

HNPSS, Error in mismatch repair, defect in mismatch repair enzymes, symptoms: colon cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Xeroderma pigmentosum

A

Error in nucleotide excision repair, ability to repair damage caused by UV light is messed up, Symptoms: basal cell carcinomas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Werner Syndrome

A

DNA replication problem, helicase is malfunctioning, premature aging

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Shh ectopic expression

A

Gene Regulation disease, mutation in ZRS enhancer –> ectopic expression of Shh, Symptoms: human limb malformations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Follicular B-Cell Lymphoma

A

Gene Regulation disease, 14:18 translocation due to overexpression of BCL-2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Cleft Lip

A

Gene Regulation disease, Disruption of Ap-2a binding site of IRF6 enhancer, symptoms: cleft lip

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Fragile X Syndrome

A

FXS Gene Regulation disease, mutation in the FMR1 gene encoding fragile X mental retardation protein, underdevelopment of neural circuits

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Brown Adipose Tissue

A

BAT, Mitochondrial disease, inability to expel brown fat after infancy, symtpoms: hibernoma growth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Leigh Syndrome

A

LS, Mitochondrial disease, encephalopathy, cerebellar and brain stem signs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

MELAS

A

Mitochondrial disease, Stroke like episodes at < 40 y/o, seizures, and ragged-red fibers

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

MEMSA

A

Mitochondrial disease: myopathy, seizures, cerebellar ataxia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

MERRF

A

Mitochondrial disease: myoclonul, seizures, cerebellar ataxia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Cataracts
Cholesterol Synthesis disease, LCAT dysfunction, failure to uptake HDL, leads to eye cloudiness
26
Gallstone disease or cholelithiasis
Cholesterol disease, cholesterol precipitation in galbladder, gallstones
27
Rickets
Steroid synthesis disease, vitamin D deficiency from low steroid hormone synthesis from cholesterol, Symptoms: low [Ca], skeletal deformities, softening of the bones
28
Familial Defective ApoB
Apolipoprotein disorder binding failure of ApoB100 to LDL receptor
29
Atherosclerosis
Lipoprotein metabolism disorder, uptake of OxLDL by macrophage scavenger receptors, foam cell and plaque formation Symptoms: heart failure
30
Familial Hypercholesterolemia / Type IIa
FH, Dyslipidemia, Uptake of LDL is impaired, greater [LDL-cholesterol]
31
Familial Combined Hyperlipidemia / Type IIb
Dyslipidemia, overproduction of ApoB100, higher generation of LDL
32
Familial dysbetalipoproteinemia / Type III
Dyslipidemia, Apo E2 synthesis defect; low affinity for LDL receptor, Symptoms: coronary disease
33
Lipoprotein Lipase Deficiency
Dyslipidemia, Extremely high levels of VLDL and chylomicrons, symptoms: increased pancreatitis risk
34
Maturity Onset Diabetes of the Young
MODY, Insulin disorder, glucokinase mutation
35
PFK-1 deficiency
Carb Enzyme deficiency, deficiency in PFK-1 leads to inefficient use of glucose in RBCs and muscles. Symptoms: anemia, muscle cramping
36
Pyruvate Kinase deficiency
Carb Enzyme deficiency, deficiency in pyruvate kinase leads to insufficient ATP for membrane pumps. Symptoms: hemolytic anemia
37
Lactic Acidosis
Carb Enzyme deficiency, too much blood lactate, exceeds buffering capacity of the blood. Symptoms: nausea, vomiting, hyperventilation
38
Von Gierke disease
Glycogen storage disease, glucose 6 phosphatase deficiency. Symptoms: hepatomegaly
39
McArdle disease
Glycogen storage disease. muscle glycogen phosphorylase deficiency. Symptoms: muscle cramps and pain
40
Pompe disease
Glycogen storage disease. lysosomal glucosidase deficiency. Symptoms: no hepatomegaly, severe cardiomyopathy
41
Neonatal hypoglycemia
Glycogen storage disease. Malnourished mother leads to hypoglycemic child. Symptoms: newborn born hypoglycemic
42
Hunter disease
GAG disease. deficiency of iduronate sulfatase. Symptoms: no hepatosplenomegaly
43
Hurler disease
GAG disease. deficiency of a-L-iduronidase. Symptoms: hepatosplenomegaly
44
I-cell disease
GAG disease. mannose tag is missing on lysosomal hydrolases
45
Essential Fructoseria
Fructose Metabolism disease. deficiency of fructokinase. no symptoms
46
Hereditary Fructose Intolerance
HFI. Fructose Metabolism disease. deficiency in aldolase. Symptoms: hepatomegaoly, hypoglycemia
47
Classical Galactosemia
Galactose metabolism disease. deficiency of galactose 1-phosphate uridylyl transferase. Symptoms: blood galactose increase
48
Non-classical Galactosemia
Galactose metabolism disease. deficiency in galactokinase. Symptoms: blood galactose increase
49
G6PD deficiency
PPP disease. deficiency in G6P, similar inheritence pattern as sickle cell (heterozygous = malaria resistence), heinz bodies
50
Spinal Muscular Atrophy
mRNA splicing disorder. snRNP malfunctioning. Symptoms: hypotonia and floppy baby syndrome
51
Medium Chain Acyl-CoA Dehydrogenase Deficiency
MCADD. Mutations in the ACADM gene lead to a shortage (deficiency) of the MCAD enzyme within cells. Without sufficient amounts of this enzyme, medium-chain fatty acids are not metabolized properly. As a result, these fats are not converted to energy, which can lead to the characteristic signs and symptoms of this disorder such as lethargy and hypoglycemia. Medium-chain fatty acids or partially metabolized fatty acids may also build up in tissues and damage the liver and brain. This abnormal buildup causes the other signs and symptoms of MCAD deficiency.
52
Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia is a genetic disorder. In children with CAH, the gene (21-hydroxylase) that makes the enzyme needed to produce cortisol and aldosterone is not working properly.
53
Neurofibromatosis Type I
NF1. Mutations in the NF1 gene cause neurofibromatosis type 1. The NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many cells, including nerve cells and specialized cells surrounding nerves (oligodendrocytes and Schwann cells). Neurofibromin acts as a tumor suppressor, which means that it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in the NF1 gene lead to the production of a nonfunctional version of neurofibromin that cannot regulate cell growth and division. As a result, tumors such as neurofibromas can form along nerves throughout the body.
54
Familial Isolated Hypothyroidism
Familial isolated hyperparathyroidism can be caused by mutations in the MEN1, CDC73, or CASR gene.
55
Severe Combined Immunodeficiency Syndrome
SCIDS. Purine Metabolism disorder. Adenosine Deaminase Deficiency - purine catabolism enzyme. Symptoms: severe immune deficiency. B, T, and plasma cells affected.
56
Gout
Purine Metabolism disorder. excess uric acid form crystals --> inflammatory response in macrophages. Symptoms: inflammation, joint destruction, kidney disease, kidney stones
57
Von Gierke disease
Purine Metabolism disorder. defect of glucose 6 phosphatase -> glucose can't be formed from G6P so G6P instead goes down PPP to make uric acid
58
Lesch-Nyhan Syndrome
Purine rescue disorder. HGPRT deficiency. Symptoms: destructive behavior toward self, hyperuricemia
59
orotic aciduria
pyrimidine synthesis disorder. deficiency in OMP decarboxylase or OPT. Symptoms: slow growth in children, anemia
60
phenylketonuria
PKU. amino acid metabolism disorder. elevated phenylalanine in tissue and reduced tyrosine. Symptoms: mousey odor, CNS abnormalities, hypopigmentation
61
alkaptonuria
amino acid metabolism disorder. accumulation of homogentisic acid oxidase, which participates in degradation of tyrosine. Symptoms: black urine and black bone
62
albinism
amino acid metabolism disorder . defect in tyrosine metabolism. Symptoms: albino phenotype
63
homocystinuria
amino acid metabolism disorder. defect in homocysteine metabolism. Symptoms: myopia, displacement of the lens, skeletal abnormalities
64
maple syrup urine disease
amino acid metabolism disorder. defect in BCKD which decarboxylates leucine, isoleucine, and valine. Symptoms: feeding problems, maple syrup odor in urine
65
blue diaper syndrome
amino acid metabolism disorder defect in recovery of tryptophan in intestine. Symptoms: blue urine, hypercalcemia
66
cystinuria
amino acid metabolism disorder. defect in uptake of cystine, ornithine, arginine, and lysine (COAL) in urine in kidneys. Symptoms: kidney stones
67
retinoblastoma
mitosis disorder. mutation of retinoblastoma gene. Symptoms: cancer of the retina
68
ataxia-telangiectasia
mitosis disorder. damage in DNA damage sensors. Symptoms: malformed blood vessels and nervous system dysfunction
69
Down Syndrome
aneuploidy. trisomy 21. Symptoms: hypotonia, flat face, slanted palpebral fissures, single palmar crease
70
Edwards Syndrome
aneuploidy. trisomy 18. Symptoms: flexed fingers, Rocker Bottom feet, early death
71
Patau Syndrome
aneuploidy. trisomy 13. Symptoms: CNS malformation, cleft lip, early death
72
Klinefelter Syndrome
aneuploidy. 47,XXY in males. Symptoms: sterility, soft and small testes, breast development
73
Turner Syndrome
aneuploidy. monosomy X. Symptoms: short stature, broad chest, low hairline, ovarian dysgenesis, webbed neck
74
Wolf-Hirschhorn Syndrome
chromosomal deletion. 4p deletion. Symptoms: growth deficiency, convulsions in infancy, sacral dimples
75
Cri-du-chat Syndrome
chromosomal deletion. 5p deletion. Symptoms: catlike cry
76
Angelman Syndrome
Imprinting disorder. deletion in UBE3A gene, paternally imprinted gene (paternal copy is methylated). Symptoms: Happy puppet syndrome, fascination w/ water
77
Prader-Willi Syndrome
Imprinting disorder. mutation in SNRNPN-- genes are maternally imprinted. Symptoms: hyperphagia (insatiable appetite)
78
Beckwith-Wiedemann Syndrome
Imprinting disorder. mutation in imprinting control region on 11p15. Symptoms: large at birth, abdominal wall defects
79
Russel-Silver Syndrome
Imprinting disorder. methylation error at 11p15 and UDP of chromosome 7. Symptoms: dwarfism, slow growth, opposite of BWS
80
Rett Syndrome
(kinda) Imprinting disorder. mutation in MeCP2 which is a DNA methyl binding protein. Symptoms: neurodevelopmental delays, microcephaly

M1-Block 1 (32 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions